Rare Rheumatology News

Disease Profile

Malignant peripheral nerve sheath tumor

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

C47.9

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

MPNST; Malignant neurilemmoma; Malignant neurofibroma;

Categories

Rare Cancers

Summary

A malignant peripheral nerve sheath tumor (MPNST) is a tumor that develops in the protective lining that covers nerves.[1][2][3] The first symptom of MPNST is often a lump or mass that increases in size, sometimes causing pain or a tingling sensation.[1] MPNST is considered an aggressive tumor because there is up to a 65% chance of the tumor regrowing after surgery (a recurrence),[1][4] and approximately 40% chance of spreading to distant parts of the body (a metastasis), most commonly to the lung.[5][6][7] Treatment of MPNST begins with surgery to remove as much of the tumor as possible. Radiation therapy may be used to decrease the chance of a recurrence. Chemotherapy might be used if the whole tumor cannot be removed during surgery, or to treat a metastasis.[1][2] MPNSTs are quite rare, occurring in 0.001% of the general population.[8] Approximately 25-50% of MPNSTs are associated with a genetic condition known as neurofibromatosis type 1.[9]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • Mayo Clinic has an information page on Malignant peripheral nerve sheath tumor.
    • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
    • The Sarcoma Foundation of America provides information about Malignant peripheral nerve sheath tumor. Click on the link to open the page for this topic.
    • Sarcoma UK has an information page about Malignant peripheral nerve sheath tumor. Click on the link to view this page.

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Malignant peripheral nerve sheath tumor. Click on the link to view a sample search on this topic.

        References

        1. Grobmyer SR, Reith JD, Shahlaee A, Bush CH, Hochwald SN. Malignant Peripheral Nerve Sheath Tumor: molecular pathogenesis and current management considerations. Journal of Surgical Oncology. 2008; 97:340-349. https://www.ncbi.nlm.nih.gov/pubmed/18286466.
        2. Malignant peripheral nerve sheath tumour (MPNST). Sarcoma UK. August 2015; https://sarcoma.org.uk/sarcoma-types/malignant-peripheral-nerve-sheath-tumour-mpnst#toc-8.
        3. Malignant peripheral nerve sheath tumors. Mayo Clinic. September 3, 2014; https://www.mayoclinic.org/diseases-conditions/malignant-peripheral-nerve-sheath-tumors/basics/definition/con-20035841.
        4. Katz D, Lazar A, Lev D. Malignant peripheral nerve sheath tumour (MPNST): the clinical implications of cellular signalling pathways. Expert Reviews in Molecular Medicine. 2009; 11:e30. https://www.ncbi.nlm.nih.gov/pubmed/19835664.
        5. Stark AM, Buhl R, Hugo HH, Mehdorn HM. Malignant peripheral nerve sheath tumours--report of 8 cases and review of the literature. Acta Neurochirurgica. 2001; 143:357-363. https://www.ncbi.nlm.nih.gov/pubmed/11437289.
        6. Zou C, Smith KD, Liu J, Lahat G, Myers S, Wang WL, Zhang W, McCutcheon IE, Slopis JM, Lazar AJ, Pollock RE, Lev D. Clinical, pathological, and molecular variables predictive of malignant peripheral nerve sheath tumor outcome. Annals of Surgery. 2009; 249:1014-1022. https://www.ncbi.nlm.nih.gov/pubmed/19474676.
        7. Wong WW, Hirose T, Scheithauer BW, Schild SE, Gunderson LL. Malignant peripheral nerve sheath tumor: analysis of treatment outcome. 1998; 42:351-360. https://www.ncbi.nlm.nih.gov/pubmed/9788415.
        8. Ducatman BS, Scheithauer BW, Piepgras DG, Reiman HM, Ilstrup DM. Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases. Cancer. 1986; 57:2006-2021. https://www.ncbi.nlm.nih.gov/pubmed/3082508.
        9. Anghileri M, Miceli R, Fiore M, Mariani L, Ferrari A, Mussi C, Lozza L, Collini P, Olmi P, Casali PG, Pilotti S, Gronchi A. Malignant peripheral nerve sheath tumors: prognostic factors and survival in a series of patients treated at a single institution. Cancer. 2006; 107:1065-1074. https://www.ncbi.nlm.nih.gov/pubmed/16881077.